Variant report

Variant	rs7971588
Chromosome Location	chr12:62783051-62783052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:62782791-62783207	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:62782507-62783209	K562	blood:	n/a	n/a
3	POLR2A	chr12:62782190-62784335	K562	blood:	n/a	n/a
4	POLR2A	chr12:62782235-62783326	K562	blood:	n/a	n/a
5	POLR2A	chr12:62782944-62783078	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62782304..62784105-chr12:62785748..62788359,3	K562	blood:
2	chr12:62768643..62771307-chr12:62782206..62783812,2	MCF-7	breast:
3	chr12:62781223..62783552-chr12:62783907..62785428,2	MCF-7	breast:
4	chr12:62776192..62779108-chr12:62781541..62783338,2	K562	blood:

No data

Variant related genes	Relation type
USP15	TF binding region
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10160868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10160955	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431509	0.84[AFR][1000 genomes]
rs10431565	0.84[ASN][1000 genomes]
rs10459253	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10506440	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747958	0.84[ASN][1000 genomes]
rs10784292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877820	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877824	0.84[AFR][1000 genomes]
rs10877826	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877829	0.84[ASN][1000 genomes]
rs10877831	0.84[ASN][1000 genomes]
rs10877834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174397	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11174398	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11174399	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11174408	0.82[AFR][1000 genomes]
rs11174409	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174410	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174412	0.84[AFR][1000 genomes]
rs11174418	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174424	0.83[AFR][1000 genomes]
rs11174431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174446	0.89[ASN][1000 genomes]
rs11174449	0.85[ASN][1000 genomes]
rs11174458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504122	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11836268	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12228015	0.84[AFR][1000 genomes]
rs12229271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12297474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12297480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12306066	0.87[ASN][1000 genomes]
rs12308455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12310616	0.84[ASN][1000 genomes]
rs12310651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12311259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12311279	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12314644	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12315645	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12317437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12318287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1376342	0.87[ASN][1000 genomes]
rs1496859	0.87[ASN][1000 genomes]
rs2122660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131435	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2132651	0.87[ASN][1000 genomes]
rs2167287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526400	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213984	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35634758	0.83[ASN][1000 genomes]
rs3803106	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66507062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67044039	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67853252	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7133294	0.87[ASN][1000 genomes]
rs7295013	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7298827	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7300928	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7309209	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73136889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73321563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs767391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7953967	0.84[AFR][1000 genomes]
rs7956332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974973	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7976058	0.82[AFR][1000 genomes]
rs7976608	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9634284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1803510	chr12:62729782-62802643	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv469417	chr12:62751242-62802643	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv559155	chr12:62751242-62802643	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv899154	chr12:62764909-62811328	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv899155	chr12:62764909-62817736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62717000-62783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:62717000-62784600	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:62737600-62784600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:62737600-62786600	Weak transcription	NHLF	lung
5	chr12:62738200-62787400	Weak transcription	Spleen	Spleen
6	chr12:62738200-62790600	Weak transcription	Esophagus	oesophagus
7	chr12:62738600-62783400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:62738800-62784000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:62738800-62789600	Weak transcription	Ovary	ovary
10	chr12:62738800-62792800	Weak transcription	Lung	lung
11	chr12:62741800-62783600	Weak transcription	NHDF-Ad	bronchial
12	chr12:62742000-62786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:62758200-62787400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:62762400-62796600	Weak transcription	Fetal Brain Male	brain
15	chr12:62763000-62805400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:62763800-62787600	Weak transcription	Brain Anterior Caudate	brain
17	chr12:62764200-62792000	Weak transcription	HepG2	liver
18	chr12:62764400-62786800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:62765800-62795000	Weak transcription	Small Intestine	intestine
20	chr12:62766200-62789200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:62767400-62807600	Weak transcription	HSMMtube	muscle
22	chr12:62768400-62787600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:62769200-62805000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:62769400-62797400	Weak transcription	Right Ventricle	heart
25	chr12:62769400-62809600	Weak transcription	Stomach Mucosa	stomach
26	chr12:62769600-62786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:62769600-62787400	Weak transcription	Fetal Kidney	kidney
28	chr12:62770600-62783200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:62772600-62800800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:62773000-62783600	Weak transcription	Osteobl	bone
31	chr12:62773000-62792800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:62773200-62799400	Weak transcription	Brain Substantia Nigra	brain
33	chr12:62773400-62787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:62773600-62802400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:62773800-62786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:62774000-62783200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:62774200-62783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:62774200-62786800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:62774200-62800000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:62774200-62802200	Strong transcription	Dnd41	blood
41	chr12:62774400-62799400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:62774400-62802200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:62774600-62802000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:62774800-62791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:62774800-62801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:62774800-62802200	Strong transcription	Fetal Thymus	thymus
47	chr12:62774800-62803200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:62775200-62802000	Strong transcription	Primary B cells from cord blood	blood
49	chr12:62775200-62802600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:62775600-62807800	Weak transcription	Aorta	Aorta

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